P2RY4 N178T - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

P2RY4 N178T

(P2RY4 Asn178Thr)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • G @ chrX:69478942: 33.1% (2901/8761) in EVS
  • G @ chrX:69395666: 35.9% (33/92) in GET-Evidence
  • Frequency shown in summary reports: 33.1% (2901/8761)

Publications
 

Genomes
 

 

 

 

 

 

 

 

 

 

 

GS06994 - var-GS06994-1100-36-ASM
hom G @ chrX:69395667

 

GS10851 - var-GS10851-1100-36-ASM
hom G @ chrX:69395667

 

GS18501 - var-GS18501-1100-36-ASM
hom G @ chrX:69395667

 

GS18502 - var-GS18502-1100-36-ASM
het G @ chrX:69395667

 

GS18504 - var-GS18504-1100-36-ASM
hom G @ chrX:69395667

 

GS18505 - var-GS18505-1100-36-ASM
hom G @ chrX:69395667

 

GS18517 - var-GS18517-1100-36-ASM
het G @ chrX:69395667

 

GS18526 - var-GS18526-1100-36-ASM
hom G @ chrX:69395667

 

GS18537 - var-GS18537-1100-36-ASM
het G @ chrX:69395667

 

GS18555 - var-GS18555-1100-36-ASM
het G @ chrX:69395667

 

GS18558 - var-GS18558-1100-36-ASM
hom G @ chrX:69395667

 

GS18947 - var-GS18947-1100-36-ASM
het G @ chrX:69395667

 

GS18956 - var-GS18956-1100-36-ASM
het G @ chrX:69395667

 

GS19017 - var-GS19017-1100-36-ASM
het G @ chrX:69395667

 

GS19020 - var-GS19020-1100-36-ASM
hom G @ chrX:69395667

 

GS19129 - var-GS19129-1100-36-ASM
hom G @ chrX:69395667

 

GS19238 - var-GS19238-1100-36-ASM
hom G @ chrX:69395667

 

GS19239 - var-GS19239-1100-36-ASM
hom G @ chrX:69395667

 

GS19240 - var-GS19240-1100-36-ASM
hom G @ chrX:69395667

 

GS19649 - var-GS19649-1100-36-ASM
hom G @ chrX:69395667

 

GS19700 - var-GS19700-1100-36-ASM
hom G @ chrX:69395667

 

GS19701 - var-GS19701-1100-36-ASM
hom G @ chrX:69395667

 

GS19704 - var-GS19704-1100-36-ASM
het G @ chrX:69395667

 

GS20502 - var-GS20502-1100-36-ASM
het G @ chrX:69395667

 

NA12878

 

Other external references
 

    dbSNP
  • rs1152187
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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